ArticleJournal of neuro-oncology2021
Molecular diagnosis of diffuse glioma using a chip-based digital PCR system to analyze IDH, TERT, and H3 mutations in the cerebrospinal fluid.
Article in Journal of neuro-oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Accuracy of Radiomics in PredictingRadiology. Artificial intelligence · 2024Pooled it
- The Clinical Utility of Cell-Free DNA in Brain Tumor Management: A Comprehensive Review.Journal of molecular neuroscience : MN · 2025Review
- Demonstrating the clinical utility of genomic profiling using cerebrospinal fluid to inform management of central nervous system tumors - a meta analysis of the literature.The journal of liquid biopsy · 2025Review
- Minimum Technical Preanalytical, Patient, and Clinical Context Data Elements for Cerebrospinal Fluid Liquid Biopsy: Recommendations for Public Database Submissions.JCO precision oncology · 2025Article
- Application of Circulating Tumor DNA in the Auxiliary Diagnosis and Prognosis Prediction of Glioma.Cellular and molecular neurobiology · 2024Review
- Clinical applications of cerebrospinal fluid liquid biopsies in central nervous system tumors.Translational oncology · 2024Article
- Review
- MRI radiomics model for predicting TERT promoter mutation status in glioblastoma.Brain and behavior · 2023Article
- Advances on Liquid Biopsy Analysis for Glioma Diagnosis.Biomedicines · 2023Review
- Supramaximal Resection Can Prolong the Survival of Patients with Cortical Glioblastoma: A Volumetric Study.Neurologia medico-chirurgica · 2023Article
- Cell-free DNA-based liquid biopsies in neurology.Brain : a journal of neurology · 2023Review
- Concordance analysis of cerebrospinal fluid with the tumor tissue for integrated diagnosis in gliomas based on next-generation sequencing.Pathology oncology research : POR · 2023Article
- Current Role and Future Potential of CSF ctDNA for the Diagnosis and Clinical Management of Pediatric Central Nervous System Tumors.Journal of the National Comprehensive Cancer Network : JNCCN · 2022Review
- Tapping into the genome: the role of CSF ctDNA liquid biopsy in glioma.Neuro-oncology advances · 2022Article
- Clinical application of a highly sensitive digital PCR assay to detect a small fraction of IDH1 R132H-mutant alleles in diffuse gliomas.Brain tumor pathology · 2022Article
- Circulating tumour DNA - looking beyond the blood.Nature reviews. Clinical oncology · 2022Review
- Advances in brain barriers and brain fluids research in 2021: great progress in a time of adversity.Fluids and barriers of the CNS · 2022Article
- Liquid biopsy in gliomas: A RANO review and proposals for clinical applications.Neuro-oncology · 2022Article
- Detection ofBiomedicines · 2022Review
- Methodological Challenges of Digital PCR Detection of the HistonePathology oncology research : POR · 2022Article
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
Abstract
purposeConventional genetic analyzers require surgically obtained tumor tissues to confirm the molecular diagnosis of diffuse glioma. Recent technical breakthroughs have enabled increased utilization of cell-free tumor DNA (ctDNA) in body fluids as a reliable resource for molecular diagnosis in various cancers. Here, we tested the application of a chip-based digital PCR system for the less invasive diagnosis (i.e., liquid biopsy) of diffuse glioma using the cerebrospinal fluid (CSF).
methodsCSF samples from 34 patients with diffuse glioma were collected from the surgical field during craniotomy. Preoperative lumbar CSF collection was also performed in 11 patients. Extracted ctDNA was used to analyze diagnostic point mutations in IDH1 R132H, TERT promoter (C228T and C250T), and H3F3A (K27M) on the QuantStudio
resultsWe detected either of the diagnostic mutations in tumor DNA samples from 28 of 34 patients. Among them, we achieved precise molecular diagnoses using intracranial CSF in 20 (71%). Univariate analyses revealed that the World Health Organization (WHO) grade (p = 0.0034), radiographic enhancement (p = 0.0006), and Mib1 index (p = 0.01) were significant predictors of precise CSF-based molecular diagnosis. We precisely diagnosed WHO grade III or IV diffuse gliomas using lumbar CSF obtained from 6 (87%) of 7 patients with tumors harboring any mutation.
conclusionWe established a novel, non-invasive molecular diagnostic method using a chip-based digital PCR system targeting ctDNA derived from CSF with high sensitivity and specificity, especially for high-grade gliomas.
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